Blepharophimosis - intellectual disability syndrome, MKB type
Blepharophimosis - intellectual disability syndrome, MKB type
Definition
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.
Also known as blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type, BMRS, Maat-Kievit-Brunner type, BMRS, MKB type, Ohdo syndrome, X-linked, X-linked recessive, X-linked Ohdo syndrome — per MONDO